Canonical Allele Identifier: CA204336
Community Standard Title: NM_017637.6(BNC2):c.2789A>G (p.Asp930Gly)
Gene: BNC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.16419500T>C , CM000671.2:g.16419500T>C GRCh38
NC_000009.11:g.16419498T>C , CM000671.1:g.16419498T>C GRCh37
NC_000009.10:g.16409498T>C NCBI36
NG_051226.1:g.456339A>G

Transcript Alleles

HGVS Amino-acid Change
NM_017637.6:c.2789A>G MANE Select NP_060107.3:p.Asp930Gly
ENST00000380672.9:c.2789A>G MANE Select ENSP00000370047.3:p.Asp930Gly
NM_001317939.1:c.*133A>G NP_001304868.1:n.*133A>G
NM_001317939.2:c.*133A>G NP_001304868.1:n.*133A>G
NM_001317940.1:c.2504A>G NP_001304869.1:p.Asp835Gly
NM_001317940.2:c.2504A>G NP_001304869.1:p.Asp835Gly
NM_017637.5:c.2789A>G NP_060107.3:p.Asp930Gly
ENST00000380667.6:c.2588A>G ENSP00000370042.1:p.Asp863Gly
ENST00000380672.8:c.2789A>G ENSP00000370047.3:p.Asp930Gly
ENST00000411752.5:c.1149A>G ENSP00000392212.1:n.1149A>G
ENST00000418777.5:c.2716A>G ENSP00000408370.1:n.2716A>G
ENST00000484726.5:c.*811A>G ENSP00000431516.1:n.*811A>G
ENST00000545497.5:c.*133A>G ENSP00000444640.2:n.*133A>G
ENST00000700553.1:c.2525A>G ENSP00000515060.1:p.Asp842Gly
XM_011517921.1:c.3014A>G XP_011516223.1:p.Asp1005Gly
XM_011517922.1:c.2972A>G XP_011516224.1:p.Asp991Gly
XM_011517923.1:c.2831A>G XP_011516225.1:p.Asp944Gly
XM_011517924.1:c.2804A>G XP_011516226.1:p.Asp935Gly
XM_011517924.2:c.2804A>G XP_011516226.1:p.Asp935Gly
XM_011517925.1:c.2633A>G XP_011516227.1:p.Asp878Gly
XM_011517926.1:c.2603A>G XP_011516228.1:p.Asp868Gly
XM_011517927.1:c.2408A>G XP_011516229.1:p.Asp803Gly
XM_011517928.1:c.*133A>G XP_011516230.1:n.*133A>G
XM_011517929.1:c.2225A>G XP_011516231.1:p.Asp742Gly
XM_011517930.1:c.2225A>G XP_011516232.1:p.Asp742Gly
XM_011517931.1:c.2225A>G XP_011516233.1:p.Asp742Gly
XM_011517932.1:c.2225A>G XP_011516234.1:p.Asp742Gly
XM_011517933.1:c.*133A>G XP_011516235.1:n.*133A>G
XM_017014816.1:c.3056A>G XP_016870305.1:p.Asp1019Gly
XM_017014817.1:c.2981A>G XP_016870306.1:p.Asp994Gly
XM_017014818.1:c.2972A>G XP_016870307.1:p.Asp991Gly
XM_017014819.1:c.2915A>G XP_016870308.1:p.Asp972Gly
XM_017014820.1:c.2909A>G XP_016870309.1:p.Asp970Gly
XM_017014821.1:c.2831A>G XP_016870310.1:p.Asp944Gly
XM_017014822.1:c.2603A>G XP_016870311.1:p.Asp868Gly
XM_017014823.1:c.2603A>G XP_016870312.1:p.Asp868Gly
XM_017014824.1:c.2408A>G XP_016870313.1:p.Asp803Gly
XM_017014825.2:c.*165A>G XP_016870314.1:n.*165A>G
XM_017014826.1:c.*133A>G XP_016870315.1:n.*133A>G
XM_017014829.2:c.*165A>G XP_016870318.1:n.*165A>G